Charcot-Marie-Tooth disease is a group of inherited nerve disorders affecting about 1 in 2,500 people. It causes progressive weakness and numbness in the feet, legs, hands, and arms as the nerves that control muscles and sensation slowly break down. Until recently, treatment was limited to braces, physical therapy, and surgery for foot deformities.
What's actually going on in research
Trials are now testing gene therapies for specific CMT subtypes, small molecules that address the underlying protein misfolding or nerve damage, and antisense drugs that silence harmful genes. Researchers are also studying drugs originally developed for other conditions that may slow nerve loss. The field has shifted from purely supportive care to targeting the genetic causes directly.
Gene therapy for CMT1A
CMT1A, caused by an extra copy of the PMP22 gene, accounts for about half of all CMT cases. Gene-silencing approaches aim to reduce the excess protein that damages nerve insulation.
PXT3003 for CMT1A
This combination of three existing drugs at low doses aims to reduce PMP22 levels and improve nerve function. Trials have shown slowing of disease progression in some measures.
Gene therapy for CMT2
For CMT2 subtypes caused by specific gene mutations, researchers are testing gene replacement approaches. Early results suggest nerve function can stabilize or modestly improve.
What to know before you search
Eligibility typically depends on genetic subtype, disease severity measured by walking ability and nerve tests, and age, since some treatments target children before significant damage occurs.
What types of trials are currently open
- Gene therapy trials — Testing one-time treatments that either replace a missing gene or silence a harmful one, tailored to specific CMT subtypes like CMT1A, CMT2E, or CMT4J.
- Drug trials — Testing pills or infusions that may slow nerve damage by addressing protein misfolding, inflammation, or nerve metabolism. Some repurpose drugs used in other conditions.
- Natural history studies — Following people with CMT over time to measure how the disease progresses and which outcomes matter most. These help design better treatment trials.
- Biomarker studies — Testing new ways to measure nerve damage and track disease progression, including nerve ultrasound, blood markers, and specialized nerve tests.
- Rehabilitation trials — Testing specific exercise programs, bracing strategies, or physical therapy approaches to maintain strength and function.
Recently added Charcot-marie-tooth Disease trials
Clinical Trial Evaluating the Impact of an Intensive Rehabilitation Program Combined With Tendon Vibratory Stimulation on Functional Balance in Individuals With Charcot-Marie-Tooth Disease Type 1A
Charcot-Marie-Tooth (CMT) disease is caused by a genetic abnormality involving the PMP22 gene, resulting in demyelination of the peripheral nerves. Demyelination leads to sensorimotor impairment and causes progressive muscle weakness and tendon contractures, initially affecting the lower limbs. Consequently, individuals with CMT experience balance impairments and gait disturbances, including ankle instability, foot drop, and postural instability, which lead to frequent falls and reduced quality of life. Currently, there is no disease-modifying treatment for CMT. Several rehabilitation approaches have been proposed, including endurance training and muscle strengthening programs, to improve independence in activities of daily living. However, rehabilitation practices for individuals with CMT remain poorly standardized, and there is still a lack of clearly defined rehabilitation protocols, despite broad agreement among healthcare professionals regarding their potential benefits. More recently, noninvasive focal tendon vibration has been investigated in several neurological disorders to improve sensory function, balance, and motor performance. Previous studies suggest that mechanical vibratory stimulation applied to the quadriceps tendon may induce sustained improvements in postural control and lower-limb muscle strength. The present study aims to evaluate a rehabilitation program combined with tendon vibratory stimulation. The objective is to compare the effectiveness of a short-term (2-week), intensive multidisciplinary rehabilitation program focused on balance with different types of focal tendon vibration, in order to better address balance impairments and their associated complications in individuals with Charcot-Marie-Tooth disease.
Receive an ultrasound-guided nerve release procedure for diabetic leg pain
The goal of this clinical trial is to learn if a single session of ultrasound-guided nerve hydrodissection can relieve symptoms of diabetic lower limb entrapment neuropathy, a condition caused by compressed nerves in the leg that leads to numbness, pain, or muscle weakness in people with diabetes. The main questions it aims to answer are whether nerve hydrodissection improves nerve function (measured by the Toronto Clinical Scoring System) one month after treatment, and whether it relieves pain and improves quality of life. Researchers will compare two groups: one will receive the actual nerve hydrodissection (injection of medicine around the compressed nerve), and the other will receive a sham procedure that involves injecting a small amount of fluid under the skin (not around the nerve). Participants will not know which group they are in, and the researchers who measure the results will also not know. Participants will have four in-person visits over about one month, complete questionnaires about their nerve symptoms, pain, and quality of life, undergo nerve ultrasound at the beginning and at follow-up visits (at 1 month after treatment), and receive either the nerve hydrodissection or the sham procedure at the second visit. All participants will continue their regular diabetes and nerve medication during the study.
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